SATB2‐associated syndrome: Mechanisms, phenotype, and practical recommendations. Issue 2 (24th October 2016)

• Record Type: Journal Article
• Authors: Zarate, Yuri A.; Fish, Jennifer L.
• Is Part Of: American journal of medical genetics. Volume 173:Issue 2(2017)
• Page Start: 327
• Page End: 337
• Publication Date: 2016-10-24
• Subjects: SATB2 -- SATB2‐associated syndrome -- Glass syndrome -- 2q33.1 microdeletion syndrome -- 2q32 deletion syndrome; Medical genetics -- Periodicals; 616.14205
• DOI: 10.1002/ajmg.a.38022
• Languages: English
• ISSNs: 1552-4825

Abstract

Abstract : The SATB2 ‐associated syndrome is a recently described syndrome characterized by developmental delay/intellectual disability with absent or limited speech development, craniofacial abnormalities, behavioral problems, dysmorphic features, and palatal and dental abnormalities. Alterations of the SATB2 gene can result from a variety of different mechanisms that include contiguous deletions, intragenic deletions and duplications, translocations with secondary gene disruption, and point mutations. The multisystemic nature of this syndrome demands a multisystemic approach and we propose evaluation and management guidelines. The SATB2‐ associated syndrome registry has now been started and that will allow gathering further clinical information and refining the provided surveillance recommendations. © 2016 The Authors. American Journal of Medical Genetics Part A Published by Wiley Periodicals, Inc.